Identification of differentially expressed microRNAs in primary esophageal achalasia by next-generation sequencing

Turkish journal of biology

article

MAHIN GHOLIPOUR¹  ABDOLVAHAB MORADI¹  JAVAD MIKAELI³  SEYED JAVAD MOWLA⁴  MOHAMMAD REZA BAKHTIARZADEH⁵  MARIE SAGHAEIAN JAZI⁶  NAEME JAVID²  NARGES FAZLOLLAHI³  MASOUD KHOSHNIA¹  NASER BEHNAMPOUR⁷ 

[1] Golestan Research Center of Gastroenterology and Hepatology, Golestan University of Medical Sciences;Department of Microbiology, Faculty of Medicine, Golestan University of Medical Sciences;Autoimmune and Motility Disorders Research Center, Digestive Diseases Research Institute, Tehran University of Medical Sciences;Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University;Department of Animal and Poultry Science, College of Aburaihan, University of Tehran;Metabolic Disorders Research Center, Golestan University of Medical Sciences;Department of Biostatistics, Faculty of Health, Golestan University of Medical Sciences

关键词: Achalasia;    microRNA;    next-generation sequencing;    expression profiling;    bioinformatics;   

DOI  :  10.3906/biy-2101-61

学科分类：生物科学（综合）

来源: Scientific and Technical Research Council of Turkey - TUBITAK

【 摘 要 】

Molecular knowledge regarding the primary esophageal achalasia is essential for the early diagnosis and treatment of this neurodegenerative motility disorder. Therefore, there is a need to find the main microRNAs (miRNAs) contributing to the mechanisms of achalasia. This study was conducted to determine some patterns of deregulated miRNAs in achalasia. This case-control study was performed on 52 patients with achalasia and 50 nonachalasia controls. The miRNA expression profiling was conducted on the esophageal tissue samples using the next-generation sequencing (NGS). Differential expression of miRNAs was analyzed by the edgeR software. The selected dysregulated miRNAs were additionally confirmed using the quantitative reverse transcription polymerase chain reaction (qRTPCR). Fifteen miRNAs were identified that were significantly altered in the tissues of the patients with achalasia. Among them, three miRNAs including miR-133a-5p, miR-143-3p, and miR-6507-5p were upregulated. Also, six miRNAs including miR-215-5p, miR-216a-5p, miR-216b-5p, miR-217, miR-7641 and miR-194-5p were downregulated significantly. The predicted targets for the dysregulated miRNAs showed significant disease-associated pathways like neuronal cell apoptosis, neuromuscular balance, nerve growth factor signaling, and immune response regulation. Further analysis using qRT-PCR showed significant down-regulation of hsa-miR-217 (p-value = 0.004) in achalasia tissue. Our results may serve as a basis for more future functional studies to investigate the role of candidate miRNAs in the etiology of achalasia and their application in the diagnosis and probably treatment of the disease.

【 授权许可】

Unknown